ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1868del (p.Gly623fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV003485012 SCV004232432 likely pathogenic GNE myopathy 2024-01-23 criteria provided, single submitter clinical testing The c.1868del variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in literature with GNE-related conditions nor reported to the clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, varsome, Franklin etc predicted this variant to be likely deleterious. This variant causes frameshift at the 623rd amino acid position of the wild-type transcript which creates a premature translational stop signal at the altered transcript that may either result in translation of a truncated protein or cause nonsense mediated decay of the mRNA. This individual harbours another heterozygous likely pathogenic variant (c.2086G>A) in the GNE gene.

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